Today we want to share a very special post by mom Shannon Terry, whose beautiful little girl was born with a rare genetic condition called Spinal Muscular Atrophy. At the bottom of this post, Shannon shares ways you can help and give hope to their family and all families coping with SMA.
Reagan Harper Sinkiewicz was born December 29, 2012. Beautiful from birth, she was the perfect baby. FYI, we still think she’s perfect even though her body begs to differ. A few months after her birth, we began to notice some irregularities in Reagan. While other infants her age were eating well, gaining weight, and learning to use their developing muscles, Reagan had the opposite. Having never been around newborns, my husband and I attributed her “floppiness” to her being a late bloomer.
After a routine trip to the pediatrician highlighted these abnormalities, a series of tests were ordered. Weeks went by and test after test came back negative. Finally, we had a referral to neurologist for more extensive testing. He suggested a test for a condition known as Spinal Muscular Atrophy (SMA). After reading up on it, we hoped and prayed that the results would turn out negative. Miraculously this specific neurologist said she did not have SMA. We rejoiced! The worst possible scenario had been lifted off of our shoulders. We had six weeks of naive bliss.
After this diagnosis, we were referred to another hospital with more specialists. They took one look at Reagan and immediately ordered a test for SMA. We were confused by this. Hadn’t she just tested negative for this genetic disease? A team of five doctors, nurses and a social worker came into the room. I knew immediately what was happening. It was July 10, 2013 – the worst day of our lives.
Reagan, our beautiful baby girl, had Type 1 Spinal Muscular Atrophy. We were crushed by the diagnosis as we thought it was an automatic death sentence. Come to find out, SMA comes in several forms and Reagan was originally tested for the rarest form of SMA – a condition known as SMARD (SMA with Respiratory Distress). Our joy that she didn’t have this condition was now turned to the painful realization that our baby girl had just been given a short time to live.
Type 1 SMA is a severe genetic condition that causes an infant to slowly atrophy. Most infants with this condition show low muscle tone early in life and slowly lose whatever skills they have attained. SMA is like ALS but in babies and young children. In the most basic not-so-scientific terms, its a genetic disease effecting the motor neurons that subsequently results in extreme muscle atrophy. Unfortunately, that includes all skeletal muscle so the strength losses are significant. If no interventions are taken, most children die before their first birthdays. A rare few live until their second birthday. This brought a whole new bout of fear with it. To date there is no cure.
Shortly after her diagnosis, Reagan’s symptoms worsened. Overnight, she lost her ability to swallow; she was in respiratory distress because her chest muscles were weak; and she spent weeks in the hospital trying to gain weight. In August, she had her first surgery to equip her with a feeding tube, in hopes that she can maintain as healthy of a life as possible.